Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.P21R

SLC6A1

352 papers

RefSeq Summary

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presyn...

Pfam Domains

SNFaa 44–559UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 1

HGNC Alias Symbols

GAT1; GABATR; GABATHG; GAT-1; hGAT-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003042.4
p.P21R
c.62C>G
Surrounding Variants
1 paper
NM_003042.4
p.P21T
c.61C>A
1 paper
NM_003042.4
p.V22M
c.64G>A
1 paper
NM_003042.4
p.A23T
c.67G>A
2 papers
NM_003042.4
p.E19D
c.57G>C
1 paper
NM_003042.4
p.A23P
c.67G>C
1 paper
NM_003042.4
p.E19D
c.57G>T
1 paper
NM_003042.4
p.E19G
c.56A>G
5 papers
NM_003042.4
p.E19Q
c.55G>C
1 paper
NM_003042.4
p.S18S
c.54C>T
1 paper
NM_003042.4
p.S18N
c.53G>A
2 papers
NM_003042.4
p.S18G
c.52A>G
1 paper
NM_003042.4
p.N24N
c.72T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."